(Q67283691)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2109151%20AND%20SRC:MED&resulttype=core&format=json

11 September 2019

title

Comparison of patients with complete and partial biotinidase deficiency: biochemical studies (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2109151%20AND%20SRC:MED&resulttype=core&format=json

11 September 2019

main subject

biotinidase deficiency

1 reference

T M Suormala

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2109151%20AND%20SRC:MED&resulttype=core&format=json

11 September 2019

E R Baumgartner

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2109151%20AND%20SRC:MED&resulttype=core&format=json

11 September 2019

H Wick

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2109151%20AND%20SRC:MED&resulttype=core&format=json

11 September 2019

S Scheibenreiter

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2109151%20AND%20SRC:MED&resulttype=core&format=json

11 September 2019

S Schweitzer

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2109151%20AND%20SRC:MED&resulttype=core&format=json

11 September 2019

publication date

1 January 1990

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2109151%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

11 September 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2109151%20AND%20SRC:MED&resulttype=core&format=json

11 September 2019

volume

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2109151%20AND%20SRC:MED&resulttype=core&format=json

11 September 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2109151%20AND%20SRC:MED&resulttype=core&format=json

11 September 2019

page(s)

76-92

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2109151%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/bf01799335

11 September 2019

exact match

0 references

cites work

Contribution of gut bacterial metabolism to human metabolic disease.

1 reference

12 December 2020

Screening for biotinidase deficiency

1 reference

12 December 2020

Deficient biotinidase activity in late-onset multiple carboxylase deficiency

1 reference

12 December 2020

Multiple carboxylase deficiency

1 reference

12 December 2020

Biotin deficiency in chicks fed a wheat-based diet

1 reference

12 December 2020

The large-scale separation of peroxisomes, mitochondria, and lysosomes from the livers of rats injected with triton WR-1339. Improved isolation procedures, automated analysis, biochemical and morphological properties of fractions

1 reference

12 December 2020

Role of human serum biotinidase as biotin-binding protein

1 reference

12 December 2020

Immunological comparison of biotinidase in serum from normal and biotinidase-deficient individuals

1 reference

12 December 2020

Quantitative determination of biocytin in urine of patients with biotinidase deficiency using high-performance liquid chromatography (HPLC).

1 reference

12 December 2020

Biotinidase deficiency: a survey of 10 cases

1 reference

12 December 2020

Neonatal screening for biotinidase deficiency: results of a 1-year pilot study

1 reference

12 December 2020

Biotinidase deficiency: accumulation of lactate in the brain and response to physiologic doses of biotin

1 reference

12 December 2020

[Biotinidase deficiency: a congenital metabolic disease which can be successfully treatment with vitamin H]

1 reference

12 December 2020

1 reference

12 December 2020

Diagnosis of urea cycle disorders.

1 reference

12 December 2020

Biotinidase deficiency: a cause of subacute necrotizing encephalomyelopathy (Leigh syndrome). Report of a case with lethal outcome

1 reference

12 December 2020

Partial deficiency of biotinidase activity

1 reference

12 December 2020

Biotinidase deficiency: a novel vitamin recycling defect

1 reference

12 December 2020

Protein measurement with the Folin phenol reagent

1 reference

12 December 2020

Biotinidase deficiency associated with renal loss of biocytin and biotin

1 reference

12 December 2020

Clinical findings in four children with biotinidase deficiency detected through a statewide neonatal screening program

1 reference

12 December 2020

Low biotinidase activity in plasma of some preterm infants: possible source of false-positive screening results

1 reference

12 December 2020

PURIFICATION AND PROPERTIES OF BIOTINIDASE FROM SWINE KIDNEY AND LACTOBACILLUS CASEI

1 reference

12 December 2020

Oral biotin treatment is effective for atopic dermatitis in children with low biotinidase activity

1 reference

12 December 2020

Rapid differential diagnosis of carboxylase deficiencies and evaluation for biotin-responsiveness in a single blood sample

1 reference

12 December 2020